Last Posted: Aug 14, 2019
- Mitochondrial disorders and drugs: what every physician should know.
Orsucci Daniele et al. Drugs in context 2019 8212588
- The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Baek Min Seong et al. Yonsei medical journal 2019 Jan 60(1) 98-105
- Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198
- Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Koenig Mary Kay et al. JAMA neurology 2016 Mar
- Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.
Åkebrand Rebecka, et al. Acta ophthalmologica 2016 2
- Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
Zhou Mei-Cen, et al. BMC medical genetics 2015 0 (1) 92
- Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
Komulainen Tuomas, et al. JIMD reports 2015 0 91-100
- Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Nesti Claudia, et al. Human molecular genetics 2015 3
- The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?
Borgione Eugenia, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2013 7 (7) 1223-6
- High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.
Malfatti Edoardo, et al. Neurology 2013 1 (1) 100-5
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.